about
HMG20A and HMG20B map to human chromosomes 15q24 and 19p13.3 and constitute a distinct class of HMG-box genes with ubiquitous expressionThe polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domainsGenomic characterization of CD84 reveals the existence of five isoforms differing in their cytoplasmic domainsAssociation of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity.Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26.Differential proteomics of omental and subcutaneous adipose tissue reflects their unalike biochemical and metabolic properties.MiRNA expression profile of human subcutaneous adipose and during adipocyte differentiationEstimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish populationMutation analysis of the entire PKD1 gene: genetic and diagnostic implicationsUncovering suitable reference proteins for expression studies in human adipose tissue with relevance to obesity.Breast cancer 1 (BrCa1) may be behind decreased lipogenesis in adipose tissue from obese subjects.FABP4 dynamics in obesity: discrepancies in adipose tissue and liver expression regarding circulating plasma levels.The MRC1/CD68 ratio is positively associated with adipose tissue lipogenesis and with muscle mitochondrial gene expression in humansIdentification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approachGAL3ST2 from mammary gland epithelial cells affects differentiation of 3T3-L1 preadipocytes.Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profileProteome-wide alterations on adipose tissue from obese patients as age-, diabetes- and gender-specific hallmarksDifferential proteomic and oxidative profiles unveil dysfunctional protein import to adipocyte mitochondria in obesity-associated aging and diabetes.Tackling the human adipose tissue proteome to gain insight into obesity and related pathologies.Study of the proinflammatory role of human differentiated omental adipocytes.Autosomal dominant polycystic kidney disease: molecular analysis.A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).Enhanced fatty acid oxidation in adipocytes and macrophages reduces lipid-induced triglyceride accumulation and inflammation.Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.N-acetylcysteine inhibits kinase phosphorylation during 3T3-L1 adipocyte differentiation.N-Acetylcysteine affects obesity-related protein expression in 3T3-L1 adipocytes.Parathyroid Hormone-Related Protein, Human Adipose-Derived Stem Cells Adipogenic Capacity and Healthy Obesity.The delta F508 mutation and RFLP-linked loci in Spanish cystic fibrosis families.Comment: the methionine 196 arginine polymorphism in exon 6 of the TNF receptor 2 gene (TNFRSF1B) is associated with the polycystic ovary syndrome and hyperandrogenism.Improved resolution of the human adipose tissue proteome at alkaline and wide range pH by the addition of hydroxyethyl disulfide.The gene expression of the main lipogenic enzymes is downregulated in visceral adipose tissue of obese subjects.ITCH deficiency protects from diet-induced obesity.Subcutaneous fat shows higher thyroid hormone receptor-alpha1 gene expression than omental fat.Transducin-like enhancer of split 3 (TLE3) in adipose tissue is increased in situations characterized by decreased PPARγ gene expression.A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic DisordersMitoproteomics: Tackling Mitochondrial Dysfunction in Human DiseaseCharacterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsyPolycystic kidney disease. 1: Identification and analysis of the primary defectSplicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletionGenetic analysis of Cuban autosomal dominant polycystic kidney disease kindreds using RFLPs and microsatellite polymorphisms linked to the PKD1 locus
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hulumtuese
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wetenschapper
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հետազոտող
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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Belén Peral
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P106
P21
P31
P496
0000-0003-4984-4020